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Pregnancy and Prenatal Testing

There are many tools available for GPs and other health professionals to assist women and their partners with planning a pregnancy.

FOLATE can help prevent Neural Tube Defects

Neural tube defects such as spina bifida and anencephaly  are partly caused by a lack of the B group vitamin called folate or folic acid in the mother i.e. in the pregnancy environment in which the baby is developing before birth.

Research has shown that 7 out of 10 (70%) cases of neural tube defects can be prevented by increasing the mother’s intake of folate prior to, and during, early pregnancy.

It is recommended that for all women, folate supplements (0.5mg per day) be taken for a least 1 month prior to possible conception and continued at that level for the first 3 three months of pregnancy.

Some couples have a higher than average chance of having a child with a neural tube defect. These include where the mother or father themselves have a neural tube defect, women who are insulin dependent diabetics and some women who are taking anticonvulsant medications. In these situations, it may be necessary to take a higher dose of folate and/or refer for genetic counselling.


  • Genetic screening for women planning a pregnancy

Women of particular ethnic backgrounds may have an increased chance of carrying genetic changes that can cause illness in their offspring.  GPs may feel it appropriate to conduct genetic testing on women or their partners if planning a pregnancy.

A family history can guide GPs and other health practitioner about which tests may be useful to conduct on women planning a pregnancy. The following are examples of possible genetic testing options for couples planning a pregnancy

Hemoglobinopthaies or thalassaemias are common in people with a family background from southern Europe, the Middle East, South-East Asia, Africa, the Indian subcontinent, South America, Caribbean and Pacific Islands.
Fact Sheet 43 Thalassaemia and Fact Sheet 44 Sickle Cell Disease
A number of genetic conditions are more common amongst descendants of Central and Eastern European (Ashkenazi) Jews than in people from other population groups. These conditions include Tay-Sachs disease, Canavan disease, Fanconi anaemia, familial dysautonomia and cystic fibrosis (CF).
Fact Sheet 42 Tay Sachs Disease and other Conditions more common in the Ashkenazi Jewish Community
Cystic Fibrosis most commonly affects people who are of Northern European or UK descent, and is also fairly frequent in people whose ancestry is Southern European and Middle Eastern, but is rare or absent where the ancestry is Asian.
Fact Sheet 41 Cystic Fibrosis
  • Online training for GPS and other health professionals

First Trimester Screening

A 90 minute online category 2 activity to assist GPs and other health professionals develop skills and strategies to facilitate discussion with women around first trimester screening.

  • Find Prenatal Testing Services

Prenatal Testing Services

A list of Services offering Genetic Counselling and Prenatal Testing


  • MotherSafe

Mothersafe is a NSW State-wide service that provides a comprehensive counselling service for women and their healthcare providers concerned about exposures during pregnancy and breastfeeding. Such exposures may include:

Prescription drugs

  • Over-the-counter medications
  • Street drugs
  • Infections
  • Radiation
  • Occupational exposures

Health practitioners are encouraged to call or refer patients to this service for review and management of medications in pregnancy.

MotherSafe Contact Numbers

Phone: 9382 6539 (Sydney Metropolitan Area)

Phone: 1800 647 848 (Non-Metropolitan Area)




Last updated: Aug 18, 2016